Variant report

Variant	rs28594952
Chromosome Location	chr15:72138456-72138457
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr15:72138309..72141068-chr15:72175580..72177408,2	MCF-7	breast:
2	chr15:72137846..72140290-chr15:72140971..72143287,2	K562	blood:

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs12101538	0.80[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28379098	0.80[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28379368	0.90[AFR][1000 genomes]
rs28415882	1.00[EUR][1000 genomes]
rs28463520	0.96[AFR][1000 genomes];0.91[AMR][1000 genomes]
rs55764190	1.00[EUR][1000 genomes]
rs55916507	0.89[EUR][1000 genomes]
rs56087519	1.00[EUR][1000 genomes]
rs9920876	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv904334	chr15:71737376-72177659	Strong transcription Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
2	nsv1036938	chr15:71948106-72272855	Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Enhancers Genic enhancers Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
3	esv3331306	chr15:72049818-72427559	Strong transcription ZNF genes & repeats Active TSS Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
4	esv3433206	chr15:72049838-72427529	Enhancers Strong transcription Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
5	nsv569906	chr15:72126034-72218036	Strong transcription Weak transcription Active TSS Enhancers ZNF genes & repeats Genic enhancers Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
6	nsv516871	chr15:72126034-72325595	Weak transcription Strong transcription Active TSS ZNF genes & repeats Enhancers Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
7	nsv1042740	chr15:72128799-72482239	Weak transcription Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
8	nsv542426	chr15:72128799-72482239	Flanking Active TSS Strong transcription Weak transcription Enhancers Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:115 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:72114600-72190600	Weak transcription	Pancreas	Pancrea
2	chr15:72115800-72147000	Weak transcription	HUES6 Cell Line	embryonic stem cell
3	chr15:72116000-72140800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
4	chr15:72116000-72142000	Weak transcription	Hela-S3	cervix
5	chr15:72116400-72147000	Weak transcription	Pancreatic Islets	Pancreatic Islet
6	chr15:72117000-72142800	Weak transcription	Stomach Mucosa	stomach
7	chr15:72119200-72171800	Weak transcription	Psoas Muscle	Psoas
8	chr15:72119400-72142400	Weak transcription	Fetal Thymus	thymus
9	chr15:72119600-72139000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
10	chr15:72119800-72140800	Weak transcription	HUES48 Cell Line	embryonic stem cell
11	chr15:72119800-72142200	Weak transcription	Spleen	Spleen
12	chr15:72120200-72139000	Weak transcription	Primary monocytes fromperipheralblood	blood
13	chr15:72120400-72138600	Weak transcription	Cortex derived primary cultured neurospheres	brain
14	chr15:72120400-72142400	Weak transcription	GM12878-XiMat	blood
15	chr15:72120600-72139800	Weak transcription	HMEC	breast
16	chr15:72120600-72147400	Weak transcription	Small Intestine	intestine
17	chr15:72120800-72142200	Weak transcription	Colonic Mucosa	Colon
18	chr15:72122200-72139000	Weak transcription	Fetal Brain Male	brain
19	chr15:72122200-72189400	Weak transcription	Right Ventricle	heart
20	chr15:72122400-72139200	Weak transcription	Fetal Brain Female	brain
21	chr15:72122400-72140200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
22	chr15:72122400-72141800	Weak transcription	NH-A	brain
23	chr15:72122400-72142200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
24	chr15:72122400-72195000	Weak transcription	NHEK	skin
25	chr15:72122600-72139000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
26	chr15:72122600-72139000	Weak transcription	Brain Angular Gyrus	brain
27	chr15:72122600-72139600	Weak transcription	Duodenum Mucosa	Duodenum
28	chr15:72122600-72140800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
29	chr15:72122600-72140800	Weak transcription	Brain Substantia Nigra	brain
30	chr15:72122600-72141000	Weak transcription	Primary hematopoietic stem cells	blood
31	chr15:72122600-72141200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
32	chr15:72122600-72142200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
33	chr15:72122600-72142200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
34	chr15:72122600-72142200	Weak transcription	Lung	lung
35	chr15:72122600-72144600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
36	chr15:72122600-72145600	Weak transcription	Thymus	Thymus
37	chr15:72122600-72171800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
38	chr15:72122600-72185200	Weak transcription	Esophagus	oesophagus
39	chr15:72122600-72195800	Weak transcription	Gastric	stomach
40	chr15:72122800-72139200	Weak transcription	Brain Hippocampus Middle	brain
41	chr15:72122800-72139600	Weak transcription	A549	lung
42	chr15:72122800-72139800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
43	chr15:72122800-72141400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
44	chr15:72122800-72142200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
45	chr15:72123000-72139600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
46	chr15:72124000-72139600	Weak transcription	Fetal Intestine Large	intestine
47	chr15:72124800-72145800	Weak transcription	Fetal Heart	heart
48	chr15:72129200-72148000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
49	chr15:72131200-72148200	Strong transcription	Placenta	Placenta
50	chr15:72131600-72147000	Strong transcription	Fetal Muscle Leg	muscle

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